Canonical Allele Identifier: CA2658498389
Gene: SRD5A2 HGNC NCBI

Linked Data

gnomAD v4: 2-31531223-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.31531223G>T , CM000664.2:g.31531223G>T GRCh38
NC_000002.11:g.31756293G>T , CM000664.1:g.31756293G>T GRCh37
NC_000002.10:g.31609797G>T NCBI36
NG_008365.1:g.54749C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000622030.2:c.547+148C>A MANE Select ENSP00000477587.1:n.547+148C>A
ENST00000622030.1:c.547+148C>A ENSP00000477587.1:n.547+148C>A
NM_000348.3:c.547+148C>A NP_000339.2:n.547+148C>A
XM_011533069.1:c.325+148C>A XP_011531371.1:n.325+148C>A
XM_011533070.1:c.292+148C>A XP_011531372.1:n.292+148C>A
XM_011533071.1:c.292+148C>A XP_011531373.1:n.292+148C>A
XM_011533072.1:c.292+148C>A XP_011531374.1:n.292+148C>A
XM_011533069.2:c.325+148C>A XP_011531371.1:n.325+148C>A
XM_011533072.2:c.292+148C>A XP_011531374.1:n.292+148C>A
NM_000348.4:c.547+148C>A MANE Select NP_000339.2:n.547+148C>A
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